chr1:156107457:C>G Detail (hg19) (LMNA)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr1:156,107,457-156,107,457
hg38	chr1:156,137,666-156,137,666 View the variant detail on this assembly version.

HGVS

LMNA

Type	Transcript	Protein
RefSeq	NM_001282624.1:c.1378C>G	NP_001269553.1:p.Arg460Gly
	NM_001282625.1:c.1621C>G	NP_001269554.1:p.Arg541Gly
	NM_005572.3:c.1621C>G	NP_005563.1:p.Arg541Gly
	NM_170707.3:c.1621C>G	NP_733821.1:p.Arg541Gly
	NM_001257374.2:c.1285C>G	NP_001244303.1:p.Arg429Gly
	NM_001282626.1:c.1621C>G	NP_001269555.1:p.Arg541Gly
Ensemble	ENST00000368297.5:c.1378C>G	ENST00000368297.5:p.Arg460Gly
	ENST00000683032.1:c.1621C>G	ENST00000683032.1:p.Arg541Gly
	ENST00000473598.6:c.1324C>G	ENST00000473598.6:p.Arg442Gly
	ENST00000677389.1:c.1621C>G	ENST00000677389.1:p.Arg541Gly
	ENST00000368301.6:c.1621C>G	ENST00000368301.6:p.Arg541Gly
	ENST00000675667.1:c.1621C>G	ENST00000675667.1:p.Arg541Gly
	ENST00000675939.1:c.1621C>G	ENST00000675939.1:p.Arg541Gly
	ENST00000676385.2:c.1608+434C>G
	ENST00000504687.7:c.1063C>G	ENST00000504687.7:p.Arg355Gly
	ENST00000368300.9:c.1621C>G	ENST00000368300.9:p.Arg541Gly
	ENST00000682650.1:c.1608+434C>G
	ENST00000448611.6:c.1285C>G	ENST00000448611.6:p.Arg429Gly
	ENST00000368299.7:c.1621C>G	ENST00000368299.7:p.Arg541Gly
	ENST00000361308.9:c.1621C>G	ENST00000361308.9:p.Arg541Gly

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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Links

LMNA

Type	Database	ID	Link
Gene	MIM	150330	OMIM
	HGNC	6636	HGNC
	Ensembl	ENSG00000160789	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2011-01-01	no assertion criteria provided	dilated cardiomyopathy 1A	germline	Detail
not provided		no assertion provided	not provided	not provided	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
<0.001	Dyskinetic syndrome	A new c.1621 C > G, p.R541G lamin A/C mutation in a family with DCM and regio...	BeFree	21085127	Detail
0.298	Cardiomyopathy, Dilated	Dilated cardiomyopathy with profound segmental wall motion abnormalities and ven...	BeFree	19167105	Detail
0.443	Cardiomyopathy, Familial Idiopathic	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_170707.4(LMNA):c.1621C>G (p.Arg541Gly) AND Dilated cardiomyopathy 1A	ClinVar	Detail
NM_170707.4(LMNA):c.1621C>G (p.Arg541Gly) AND not provided	ClinVar	Detail
A new c.1621 C > G, p.R541G lamin A/C mutation in a family with DCM and regional wall motion abno...	DisGeNET	Detail
Dilated cardiomyopathy with profound segmental wall motion abnormalities and ventricular arrhythmia ...	DisGeNET	Detail
NA	DisGeNET	Detail

Overlapped Transcript Coordinates

Gene	Transcript ID	Exon Number	Chromosome	Start	Stop	Type	Amino Mutation	Transcript Position	Links

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs56984562 dbSNP
Genome: hg19
Position: chr1:156,107,457-156,107,457
Variant Type: snv
Reference Allele: C
Alternative Allele: G

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